Found: 10
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SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 18, doi. 10.3390/brainsci12010018
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- Publication type:
- Article
Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.
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- Neurogenetics, 2007, v. 8, n. 3, p. 169, doi. 10.1007/s10048-007-0086-0
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- Publication type:
- Article
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14491, doi. 10.3390/ijms232214491
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- Publication type:
- Article
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 15, p. 3621, doi. 10.3390/ijms20153621
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- Publication type:
- Article
Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32976
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- Publication type:
- Article
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00967
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- Publication type:
- Article
Medical care of adolescents and women with Rett syndrome: An Italian study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 13, doi. 10.1002/ajmg.a.34367
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- Publication type:
- Article
Rett networked database: An integrated clinical and genetic network of rett syndrome databases.
- Published in:
- Human Mutation, 2012, v. 33, n. 7, p. 1031, doi. 10.1002/humu.22072
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- Publication type:
- Article
Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders.
- Published in:
- 2021
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- Publication type:
- Editorial
Think About It: FMR1 Gene Mosaicism.
- Published in:
- 2014
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- Publication type:
- Case Study